Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Syt13'

288731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syt13

Ensembl Gene

ENSMUSG00000027220

Gene Name

synaptotagmin XIII

Synonyms

5730409J20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

92745446-92786403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92771149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 79 (F79L)

Ref Sequence

ENSEMBL: ENSMUSP00000028648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028648]

AlphaFold

Q9EQT6

Predicted Effect

probably benign
Transcript: ENSMUST00000028648
AA Change: F79L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028648
Gene: ENSMUSG00000027220
AA Change: F79L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	108	120	N/A	INTRINSIC
Pfam:C2	165	277	5e-8	PFAM
C2	303	419	7.86e-14	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or51k2	T	C	7: 103,596,127 (GRCm39)	M118T	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
Or5d47	A	T	2: 87,804,409 (GRCm39)	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1e	T	C	11: 87,122,568 (GRCm39)	H463R	probably benign	Het
Ppm1f	T	A	16: 16,731,951 (GRCm39)	C134S	possibly damaging	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Rfx8	T	C	1: 39,757,640 (GRCm39)	I43V	possibly damaging	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tbrg4	A	G	11: 6,568,492 (GRCm39)	V429A	probably damaging	Het
Tuft1	A	C	3: 94,523,075 (GRCm39)		probably null	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	probably benign	Het

Other mutations in Syt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02236:Syt13	APN	2	92,771,210 (GRCm39)	missense	probably damaging	0.96
IGL03015:Syt13	APN	2	92,781,725 (GRCm39)	missense	possibly damaging	0.94
R0345:Syt13	UTSW	2	92,776,412 (GRCm39)	missense	possibly damaging	0.66
R0367:Syt13	UTSW	2	92,745,596 (GRCm39)	missense	probably benign	0.01
R1160:Syt13	UTSW	2	92,773,387 (GRCm39)	splice site	probably null
R1635:Syt13	UTSW	2	92,783,760 (GRCm39)	missense	probably damaging	1.00
R1639:Syt13	UTSW	2	92,776,316 (GRCm39)	missense	probably benign	0.04
R1844:Syt13	UTSW	2	92,771,165 (GRCm39)	missense	probably damaging	1.00
R1869:Syt13	UTSW	2	92,776,448 (GRCm39)	missense	possibly damaging	0.90
R2032:Syt13	UTSW	2	92,783,746 (GRCm39)	missense	probably damaging	1.00
R2306:Syt13	UTSW	2	92,771,312 (GRCm39)	missense	probably benign	0.04
R2375:Syt13	UTSW	2	92,776,496 (GRCm39)	missense	probably benign	0.02
R4958:Syt13	UTSW	2	92,783,794 (GRCm39)	missense	probably damaging	1.00
R5341:Syt13	UTSW	2	92,783,897 (GRCm39)	missense	probably benign	0.00
R7605:Syt13	UTSW	2	92,773,478 (GRCm39)	missense	probably benign	0.27
R7921:Syt13	UTSW	2	92,783,991 (GRCm39)	missense	probably damaging	0.99
R8198:Syt13	UTSW	2	92,783,899 (GRCm39)	missense	probably damaging	1.00
R9498:Syt13	UTSW	2	92,781,749 (GRCm39)	missense	possibly damaging	0.58
R9621:Syt13	UTSW	2	92,745,575 (GRCm39)	missense	possibly damaging	0.93
X0024:Syt13	UTSW	2	92,773,420 (GRCm39)	missense	probably benign	0.00
Z1176:Syt13	UTSW	2	92,771,111 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16